Canonical Allele Identifier: CA393774490

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 1392856
• ClinVar RCV Id: RCV001912423
• dbSNP Id: rs1596362738
• gnomAD v4: 15-89333623-C-A
• MyVariant Identifiers: chr15:g.89876854C>A (hg19) ; chr15:g.89333623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333623C>A , CM000677.2:g.89333623C>A	GRCh38
NC_000015.9:g.89876854C>A , CM000677.1:g.89876854C>A	GRCh37
NC_000015.8:g.87677858C>A	NCBI36
NG_008218.1:g.6173G>T
NG_008218.2:g.6173G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.132G>T (POLG)	ENSP00000516154.1:p.Gln44His
ENST00000706918.1:c.187G>T (POLGARF)	ENSP00000516626.1:p.Ala63Ser
ENST00000268124.11:c.132G>T (POLG) MANE Select	ENSP00000268124.5:p.Gln44His
ENST00000635986.2:c.132G>T (POLG)	ENSP00000490653.2:p.Gln44His
ENST00000636774.1:c.132G>T (POLG)	ENSP00000489799.1:p.Gln44His
ENST00000650303.2:c.187G>T (POLG)	ENSP00000497242.2:p.Ala63Ser
ENST00000672071.1:n.330G>T (POLG)
ENST00000268124.9:c.132G>T (POLG)	ENSP00000268124.5:p.Gln44His
ENST00000442287.6:c.132G>T (POLG)	ENSP00000399851.2:p.Gln44His
ENST00000631044.2:c.132G>T (POLG)	ENSP00000486730.1:p.Gln44His
NM_001126131.1:c.132G>T (POLG)	NP_001119603.1:p.Gln44His
NM_002693.2:c.132G>T (POLG)	NP_002684.1:p.Gln44His
NM_001126131.2:c.132G>T (POLG)	NP_001119603.1:p.Gln44His
NM_002693.3:c.132G>T (POLG) MANE Select	NP_002684.1:p.Gln44His